Phenotype Observation profile

This profile defines the representation of an individual's phenotypes. A phenotype can be any characteristic of an individual. However, the more common use in clinical and research settings is the description of abnormal physical findings that are usually related to an underlying genotype.

This profiles allows for indicating the presence or absence of a phenotype. Observation components are used to capture additional aspects of the phenotype.

No vocabulary bindings have been defined yet and might intentionally not be defined in this IG. Other use case specific IGs that extend this IG can define their preferred bindings. The Human Phenotype Ontology (HPO) is an ontology that provides a wide range of phenotypes supporting rare and undiagnosed diseases and it includes additional knowledge base linkages to support various bioinformatics tools and workflows.

• Key Elements Table
• Differential Table
• Snapshot Table
• Statistics/References
• All

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
code	SΣ	1..1	CodeableConcept	A code representing the phenotype Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	SΣC	1..1	CodeableConcept	An assertion for the presence or absence of the phenotype Binding: LOINC Answer List LL1937-3 (required)
Slices for component	Σ	0..*	BackboneElement	Phenotype components Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:age-onset	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a quantity of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
component:age-onset-range	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a range of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_RANGE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Range	Actual component result
component:age-onset-coded	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a coded concept
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_CODED
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
component:age-onset-gestational	Σ	0..1	BackboneElement	The gestational age of onset, in the form of a quantity of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_GESTATIONAL
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
component:qualifiers	Σ	0..*	BackboneElement	Phenotype qualifiers
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: QUALIFIER
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
component:age-resolution	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a quantity of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
component:age-resolution-range	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a range of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_RANGE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Range	Actual component result
component:age-resolution-coded	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a coded concept
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_CODED
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
component:age-resolution-gestational	Σ	0..1	BackboneElement	The gestational age of resolution, in the form of a quantity of time
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_GESTATIONAL
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.value[x]	Base	required	LOINC Answer Codes for LL1937-3	∅	unknown?
Observation.component.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-range.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-coded.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-gestational.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:qualifiers.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-range.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-coded.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-gestational.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present	dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present	value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation		0..*	Observation	Measurements and simple assertions
code	S	1..1	CodeableConcept	A code representing the phenotype
value[x]	S	1..1	CodeableConcept	An assertion for the presence or absence of the phenotype Binding: LOINC Answer List LL1937-3 (required)
Slices for component		0..*	BackboneElement	Phenotype components Slice: Unordered, Open by value:code
component:age-onset		0..1	BackboneElement	The age of onset since birth, in the form of a quantity of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET
value[x]		1..1	Quantity	Actual component result
component:age-onset-range		0..1	BackboneElement	The age of onset since birth, in the form of a range of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_RANGE
value[x]		1..1	Range	Actual component result
component:age-onset-coded		0..1	BackboneElement	The age of onset since birth, in the form of a coded concept
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_CODED
value[x]		1..1	CodeableConcept	Actual component result
component:age-onset-gestational		0..1	BackboneElement	The gestational age of onset, in the form of a quantity of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_GESTATIONAL
value[x]		1..1	Quantity	Actual component result
component:qualifiers		0..*	BackboneElement	Phenotype qualifiers
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: QUALIFIER
value[x]		1..1	CodeableConcept	Actual component result
component:age-resolution		0..1	BackboneElement	The age of resolution since birth, in the form of a quantity of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION
value[x]		1..1	Quantity	Actual component result
component:age-resolution-range		0..1	BackboneElement	The age of resolution since birth, in the form of a range of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_RANGE
value[x]		1..1	Range	Actual component result
component:age-resolution-coded		0..1	BackboneElement	The age of resolution since birth, in the form of a coded concept
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_CODED
value[x]		1..1	CodeableConcept	Actual component result
component:age-resolution-gestational		0..1	BackboneElement	The gestational age of resolution, in the form of a quantity of time
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_GESTATIONAL
value[x]		1..1	Quantity	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Observation.value[x]	Base	required	LOINC Answer Codes for LL1937-3	∅	unknown?

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		0..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code	SΣ	1..1	CodeableConcept	A code representing the phenotype Binding: LOINCCodes (example): Codes identifying names of simple observations.
subject	Σ	0..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
effective[x]	Σ	0..1		Clinically relevant time/time-period for observation
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)	Who is responsible for the observation
value[x]	SΣC	1..1	CodeableConcept	An assertion for the presence or absence of the phenotype Binding: LOINC Answer List LL1937-3 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	Annotation	Comments about the observation
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen		0..1	Reference(Specimen)	Specimen used for this observation
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation Constraints: obs-3
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity(4.0.1)	Low Range, if relevant
high	C	0..1	SimpleQuantity(4.0.1)	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from
Slices for component	Σ	0..*	BackboneElement	Phenotype components Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-onset	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a quantity of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-onset-range	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a range of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_RANGE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Range	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-onset-coded	Σ	0..1	BackboneElement	The age of onset since birth, in the form of a coded concept
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_CODED
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-onset-gestational	Σ	0..1	BackboneElement	The gestational age of onset, in the form of a quantity of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_ONSET_GESTATIONAL
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:qualifiers	Σ	0..*	BackboneElement	Phenotype qualifiers
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: QUALIFIER
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-resolution	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a quantity of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-resolution-range	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a range of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_RANGE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Range	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-resolution-coded	Σ	0..1	BackboneElement	The age of resolution since birth, in the form of a coded concept
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_CODED
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:age-resolution-gestational	Σ	0..1	BackboneElement	The gestational age of resolution, in the form of a quantity of time
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: AGE_RESOLUTION_GESTATIONAL
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.value[x]	Base	required	LOINC Answer Codes for LL1937-3	∅	unknown?
Observation.dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.bodySite	Base	example	SNOMED CT Body Structures	📍4.0.1	FHIR Std.
Observation.method	Base	example	Observation Methods	📍4.0.1	FHIR Std.
Observation.referenceRange.​type	Base	preferred	Observation Reference Range Meaning Codes	📍4.0.1	FHIR Std.
Observation.referenceRange.​appliesTo	Base	example	Observation Reference Range Applies To Codes	📍4.0.1	FHIR Std.
Observation.component.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-onset.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-range.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-range.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-onset-range.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-coded.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-coded.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-onset-coded.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-gestational.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-onset-gestational.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-onset-gestational.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:qualifiers.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:qualifiers.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:qualifiers.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-resolution.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-range.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-range.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-resolution-range.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-coded.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-coded.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-resolution-coded.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-gestational.​code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:age-resolution-gestational.​dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:age-resolution-gestational.​interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.

Constraints

Id	Grade	Path(s)	Description	Expression
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources	contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource	contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated	contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label	contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management	text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children	hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both	extension.exists() != value.exists()
obs-3	error	Observation.referenceRange	Must have at least a low or a high or text	low.exists() or high.exists() or text.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present	dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present	value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()